A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17418941



Internal ID22476811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125156480..125156480hg38UCSC Ensembl
chr6:125477626..125477626hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38228
hg19228
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5953320
Supporting Variants
Samples
Known GenesTPD52L1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17418941
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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